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HLA allele and haplotype polymorphisms among Croatian patients in an unrelated hematopoietic stem cell donor search program.

机译:在不相关的造血干细胞供体搜索程序中,克罗地亚患者中的HLA等位基因和单倍型多态性。

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The aim of the present study was to investigate HLA alleles and haplotypes among Croatian patients in an unrelated HSCT program, and to analyze HLA matching in patient/donor pairs. Analysis was performed on a group of 105 patients and their donors, and 4000 unrelated donors from our registry (CBMDR) served as controls. PCR-SSO and PCR-SSP high-resolution methods for HLA-A, -B, -C, -DRB1, and -DQB1 loci were used for typing patient/donor pairs. Donors from CBMDR were tested for HLA-A, -B, and -DRB1 by PCR-SSO. No difference in frequency at HLA tested loci among patients and donors from CBMDR was observed. A fully matched donor (10/10) was found for 68 (64.8%) patients, and the highest number of mismatches was found for HLA-DRB1 and HLA-C alleles. The presence of HLA-B alleles (B*15:01, B*18:01, and B*51:01) associated with two or more HLA-C alleles as well as the presence of unusual HLA-B/HLA-C (B*35:01-C*07:01 and B*35:01-C*14:02) combinations resulted in mismatches at the HLA-C locus. Additionally, mismatches at the DRB1 locus were in most cases found for DRB1*11 alleles. The results suggest that the DRB1*11:04 allele might be considered as a limiting factor in finding a 10/10 matched donor. These data may help in the improvement of the searching protocol for unrelated donors for Croatian patients.
机译:本研究的目的是在不相关的HSCT程序中调查克罗地亚患者中的HLA等位基因和单倍型,并分析患者/供体对中的HLA匹配。对一组105位患者及其捐赠者进行了分析,以我们登记处(CBMDR)的4000名无关亲戚为对照。使用HLA-A,-B,-C,-DRB1和-DQB1基因座的PCR-SSO和PCR-SSP高分辨率方法对患者/供体对进行分型。通过PCR-SSO对CBMDR的供体进行了HLA-A,-B和-DRB1的检测。在患者和来自CBMDR的供体之间,在HLA检测基因座上的频率没有观察到差异。找到了一个完全匹配的供体(10/10),用于68位患者(64.8%),并且发现HLA-DRB1和HLA-C等位基因的错配数量最高。与两个或多个HLA-C等位基因相关的HLA-B等位基因(B * 15:01,B * 18:01和B * 51:01)的存在以及异常HLA-B / HLA-C的存在(B * 35:01-C * 07:01和B * 35:01-C * 14:02)组合导致HLA-C基因座不匹配。此外,在大多数情况下,DRB1 * 11等位基因在DRB1基因座处不匹配。结果表明,DRB1 * 11:04等位基因可能被视为限制找到10/10匹配供体的限制因素。这些数据可能有助于改善克罗地亚患者无关供者的搜索方案。

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